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. 2005 Apr 15;308(5720):421-4.
doi: 10.1126/science.1110189. Epub 2005 Mar 10.

Complement factor H polymorphism and age-related macular degeneration

Albert O Edwards  1 , Robert Ritter 3rd, Kenneth J Abel, Alisa Manning, Carolien Panhuysen, Lindsay A Farrer
Affiliations

Complement factor H polymorphism and age-related macular degeneration

Albert O Edwards et al. Science. .

Abstract

Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single-nucleotide polymorphisms for association with AMD in two independent case-control populations. Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.

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